Galician Foundation of Genomic Medicine (FPGMX)

Coordinator of the consortium is Prof. Dr. Angel Carracedo, from the FPGMX (P1), which is a support organization of the health service of Galicia (SERGAS) offering a clinical genetics service to all the region.

The Galician Foundation of Genomic Medicine (FPGMX) is a support organization of the health service of Galicia (SERGAS) offering a clinical genetics service (both molecular and cytogenetic analysis) to all hospitals in the SERGAS network comprising 3.5 million inhabitants. FPGMX is one of the foremost clinical genetics support organizations in Spain, offering one of the highest volumes of throughput and one of the most extensive arrays of molecular diagnostic tests for inherited diseases. 50% of the work is related with cancer including diagnosis of inherited cancer and onco- hematology. Members of the FPGMX are involved in several European and international consortia and initiatives (i,e. Human Variome Project, IRDiRC, International Cancer Consortium) among others

Major lines of investigation comprise genetics of monogenetic and complex disease, including genetics of breast and colorectal cancer and pharmacogenomics.

The FPGMX is part of the Health Research Institute of Santiago (IDIS), a research institute accredited in Spain by the Carlos III Health Institute (linked third parties art 14 of the Annotated Model Grant Agreement). The IDIS is a system of innovation and knowledge transfer that plays a key part in translational matters and optimizes and expands the historical collaboration and synergistic potential between Galician Foundation of Genomic Medicine, University of Santiago de Compostela (USC) and the Santiago University Hospital Complex (CHUS).

The generated patents and projects in cooperation with technological companies (one of them LC- NGS APLICLINIC deals with the development of efficient bioinformatic pipelines for the analysis and interpetration of NGS data and its traslation to clinical practice) demonstrates our concern for the transfer of knowledge to the company to help enhance their innovative activity, our interest in mobilizing private investment and contribute to employment generation and improvement of technological balance. Moreover, the translation into practice of the results of care clinic is one of our strengths as is recorded through our participation in several clinical guidelines, freely contribution to national and international data and participation in initiatives such as ORPHANET. Related with this, the group is also producing an important amount of exome sequencing data and involved in local (Spanex-CIBERER-Spanish Exome Server, RIC) and international initiatives (European Exome Server…).

WP4: P1 will participate the clinical validation in cancer patients and in patients with high and low risk of cancer. In this WP we will provide patients and controls and we will carry out the genotyping of the samples.

WP5: We will contribute here to functional studies. In this sense members of the group are involved in the functional validation of BRCA variants in the ENIGMA consortium (Evidence-based Network for the Interpretation of Germline Mutant Alleles) and we will translate our experience to this WP.

WP6: We will collaborate with partner 6 and partner 2 to the validation of task 6.2, 6.3 and 6.4

WP7: Dedicated and experienced support staff from Partner 1 will perform project coordination and management for WP6 leaded by this partner. As coordinators we will be the ultimate responsible for the dissemination of the PanCanRisk outcomes as well.

The subject of the project is one of the main objectives of the entity, which has all the capabilities to develop its role in the project. Angel Carracedo has extensive experience in the analysis of Mendelian and complex genetic disorders and specially cancer. He has promoted the Galician Network of Bioinformatics and has participated and coordinated several European projects and consortia. As director of the Galician Foundation of Genomic Medicine he has experience in the translation of genomic research to clinical settings. He is participating in a number of international initiatives including the ICGC for CLL, Human Variome Project (coordinator of the national node), IRDiRC among others.

Angel Carracedo (male, PhD), is director of the Galician Foundation of Genomic Medicine and director of the Spanish National Genotyping Centera and professor at the University of Santiago de Compostela (Department of Pathology). The research activity of his group in integrated into the Spanish Network Center for Rare Diseases (CIBERER). Most of AC recent research is now concentrated in the genetics of mendelian and complex traits (including pharmacogenetics) with a special focus in cancer where he is leading different nationals and international consortia.AC has published 10 books and over 550 papers in SCI journals. Regularly invited as a keynote speaker at meetings, workshops and symposia in virtually all European and North & South American countries, Japan, Australia and other countries. Board member and external adviser of different national and international foundations and societies on cancer genetics, pharmacogenomics, forensic and population genetics and clinical genetics.

The University Santiago de Compostela (USC) will be a third party to P1 and the salary of Angel Carracedo will be paid by USC.

Jorge Amigo (male, PhD) is a bioinformaticician w hig hl y experienced on the translation of NGS to diagnosis. At the FPGMX he has developed a number of bioinformatics tools to improve diagnosis as well as being involved in some bioinformatic projects (LC-NGS APLICLINIC) with the same purpose. He would apply for the bioinformation position to be entirely paid with the EC budget.

Ana Vega (female, PhD) is responsible of the breast cancer genetic unit at the FPGMX. In addition to her clinical experience in the diagnosis of inherited breast cancer, she has made multiple scientific contributions to the field and she is involved in a number of national and international initiatives (Spanish Inherited Breast Cancer Consortium, ENIGMA, RADIOGENOMICS) and EU project (REQUITE).

Clara Ruiz-Ponte (female, PhD) is responsible of the colorectal cancer genetic unit at the FPGMX and has extensive experience in genetic diagnosis and genetic counseling of inherited cancer. She is involved in a number of consortium (EPICOLON, COGENT) as well as in one European FP 7 project on colorectal cancer (CHIBCHA)

Maria Torres (female, PhD) is responsible of the Sequenom platform at the National Genotyping Center. She has carried out more than 500 projects for researchers and consortia all over Europe. Maria Torres is a member of the third party of USC and her salary will be paid by USC.

Ph.D. Bioinformatician with experience in the analysis and interpretation of next generation sequencing results for clinical diagnosis, and an experienced technician in next generation sequencing, DNA/RNA extraction, PCR amplification, template preparation (including preparation of libraries and target enrichment) and sequencing. will be recruited wholly by the EC budget. Also a B. Sc. with experience in management of European projects and networking will be recruited as Project Manager who will be the responsible of management.

Facilities include one Unit of Next Generation Sequencing with different platforms and a bioinformatic group that is supported by the Finisterrae and SVG computing systems of the Galician Supercomputer Center (www.cesga.es)

Integrated in the group it is the Santiago node of the National Genotyping Centre (http://www.cegen.org/), which provides researchers with the most advanced genotyping technologies and it is part of the PRB2 (Spanish Platform of Molecular and Bioinformatic resources).This potential has positioned us as one of the most active institutions in the region.

Finally, the FPGMX has more than 1 million DNA samples including collections of different cancer consortia and cancer types a nd control population samples and access to IANUS (Electronic medical history facilities for all the patients in the area).